Офтальмохирургия. 2016; : 44-50
РЕЗУЛЬТАТЫ ИЗУЧЕНИЯ ГЕНЕТИЧЕСКИХ МАРКЕРОВ, АССОЦИИРОВАННЫХ С ПЕРВИЧНОЙ ЭНДОТЕЛИАЛЬНОЙ ДИСТРОФИЕЙ РОГОВИЦЫ (ФУКСА)
https://doi.org/undefinedАннотация
Цель. Провести генотипирование в российской популяции пациентов с первичной эндотелиальной дистрофией роговицы Фукса (ДФ) числа тринуклеотидных повторов CTG18.1 и однонуклеотидных полиморфизмов rs613872 и rs17595731 у пациентов.
Материал и методы. В группу исследования были отобраны 78 пациентов с ДФ. Однонуклеотидные полиморфизмы были генотипированы с помощью ПЦР (полимеразная цепная реакция) и секвенирования по Сэнгеру, а число тринуклеотидных повторов определялось сочетанием методов стандартной ПЦР или ПЦР с праймированием триплетов (Triplet Primed Polymerase Chain Reaction – TP-PCR) и фрагментного анализа.
Результаты. Одна маркерная аллель G rs613872 была детектирована у 66,7% пациентов, а одновременно две – у 6,4%. Генотип G/С rs17595731 встречался в нашей выборке с частотой 12,8%. Моноаллельная экспансия тринуклеотидных повторов CTG18.1 была обнаружена у 62,8% пациентов, а биаллельная – у 3,9%. Хотя бы одна маркерная аллель была найдена у 74,4% пациентов с ДФ. Частоты распространения маркерных аллелей rs613872, rs17595731, а также CTG18.1 находятся в границах, описанных в литературе для пациентов с ДФ в европейских и американских популяциях.
Заключение. В настоящей работе у российских пациентов с ДФ была впервые оценена частота встречаемости маркерных аллелей в однонуклеотидных полиморфизмах rs613872 и rs17595731, а также экспансии тринуклеотидных повторов CTG18.1. В результате исследования показано, что сочетание двух маркеров rs613872 и rs17595731 позволяет детектировать 74,4% пациентов с ДФ, причем маркер rs613872 вносит наибольший вклад в суммарное значение чувствительности теста.
Список литературы
1. Afshari N.A., Li Y.J., Pericak-Vance M.A. et al. Genome-wide linkage scan in Fuchs endothelial corneal dystrophy // Invest. Ophthalmol. Vis. Sci. – 2009. – Vol. 50, № 3. – P. 1093-1097.
2. Aldave A.J., Rayner S. A., Salem A.K. et al. No pathogenic mutations identified in the COL8A1 and COL8A2 genes in familial Fuchs corneal dystrophy // Invest. Ophthalmol. Vis. Sci. – 2006. – Vol. 47, № 9. – P. 3787-3790.
3. Baratz K.H., Tosakulwong N., Ryu E. et al. E2-2 protein and Fuchs’s corneal dystrophy // N. Engl. J. Med. – 2010. – Vol. 363, № 11. – P. 1016-1024.
4. Biswas S., Munier F.L., Yardley J. et al. Missense mutations in COL8A2, the gene encoding the α2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy // Human molecular genetics. – 2001. – Vol. 10, № 21. – P. 2415-2423.
5. Du J., Aleff R.A., Soragni E. et al. RNA toxicity and missplicing in the common eye disease fuchs endothelial corneal dystrophy // J. Biol. Chem. – 2015. – Vol. 290, №. 10. – P. 5979-5990.
6. Eghrari A.O., McGlumphy E.J., Iliff B.W. et al. Prevalence and severity of Fuchs corneal dystrophy in Tangier Island // Am. J. Ophthalmol. – 2012. – Vol. 153, № 6. – P. 1067-1072.
7. Kang P.C., Klintworth G.K., Kim T. et al. Trends in the indications for penetrating keratoplasty, 1980-2001 // Cornea. – 2005. – Vol. 24, № 7. – P. 801-803.
8. Krachmer J.H., Purcell Jr.J.J., Young C.W., Bucher K.D. Corneal endothelial dystrophy: a study of 64 families // Arch. Ophthalmol. – 1978. – Vol. 96, № 11. – P. 2036-2039.
9. Krafchak C.M., Pawar H.M., Sayoko E. et al. Mutations in TCF8 cause posterior polymorphous corneal dystrophy and ectopic expression of COL4A3 by corneal endothelial cells // Am. J. Hum. Genet. – 2005. – Vol. 77, № 5. – P. 694-708.
10. Kuot A., Hewitt A.W., Griggs K. et al. Association of TCF4 and CLU polymorphisms with Fuchs’ endothelial dystrophy and implication of CLU and TGFBI proteins in the disease process // Europ. J. Hum. Genet. – 2012. – Vol. 20, № 6. – P. 632-638.
11. Li D., Peng X.Y., Sun H.Y. Association of TCF4 polymorphisms and fuchs’ endothelial dystrophy: a meta-analysis // BMC Ophthalmol. – 2015. – Vol. 15, № 1. – P. 1.
12. Li Y.J., Minear M.A., Rimmler J. et al. Replication of TCF4 through association and linkage studies in late-onset Fuchs endothelial corneal dystrophy // PLoS One. – 2011. – Vol. 6, № 4. – P. e18044.
13. Liskova P., Prescott Q., Bhattacharya S.S., Tuft S.J. British family with early-onset Fuchs’ endothelial corneal dystrophy associated with p. L450W mutation in the COL8A2 gene // Br. J. Ophthalmol. – 2007. – Vol. 91, № 12. – Р. 1717-1718.
14. Magovern M., Beauchamp G.R., McTigue J.W. et al. Inheritance of Fuchs’ combined dystrophy // Ophthalmol. – 1979. – Vol. 86, № 10. – P. 1897-1920.
15. Mehta J.S., Vithana E.N., Tan D.T.H. et al. Analysis of the posterior polymorphous corneal dystrophy 3 gene, TCF8, in lateonset Fuchs endothelial corneal dystrophy // Invest. Ophthalmol. Vis. Sci. – 2008. – Vol. 49, № 1. – P. 184-188.
16. Mohan A., Goodwin M., Swanson M.S. RNA-protein interactions in unstable microsatellite diseases // Brain Res. – 2014. – Vol. 1584. – P. 3-14.
17. Mok J.W., Kim H.S., Joo C.K. Q455V mutation in COL8A2 is associated with Fuchs’ corneal dystrophy in Korean patients // Eye. – 2009. – Vol. 23, № 4. – P. 895-903.
18. Mootha V.V. Gong X., Ku H.C., Xing C. Association and Familial Segregation of CTG18. 1 Trinucleotide Repeat Expansion of TCF4 Gene in Fuchs’ Endothelial Corneal Dystrophy TCF4 Gene in Fuchs’ Endothelial Corneal Dystrophy // Invest. Ophthalmol. Vis. Sci. – 2014. – Vol. 55, № 1. – P. 33-42.
19. Mootha V.V., Hussain I., Cunnusamy K. et al. TCF4 Triplet Repeat Expansion and Nuclear RNA Foci in Fuchs’ Endothelial Corneal DystrophyToxic RNA in Fuchs’ Dystrophy // Invest. Ophthalmol. Vis. Sci. – 2015. – Vol. 56, № 3. – Р. 2003-2011.
20. Nanda G.G., Padhy B., Samal S. et al. Genetic Association of TCF4 Intronic Polymorphisms, CTG18. 1 and rs17089887, With Fuchs’ Endothelial Corneal Dystrophy in an Indian PopulationGenetic Association of TCF4 With FECD // Invest. Ophthalmol. Vis. Sci. – 2014. – Vol. 55, № 11. – Р. 7674-7680.
21. Okonechnikov K., Golosova O., Fursov M. UGENE team. Unipro UGENE: a unified bioinformatics toolkit // Bioinformatics. – 2012. – Vol. 28, № 8. – Р. 1166-1167.
22. Riazuddin S. A., Eghrari A.O., Al-Saif A. et al. Linkage of a mild late-onset phenotype of Fuchs corneal dystrophy to a novel locus at 5q33. 1-q35. 2 // Invest. Ophthalmol. Vis. Sci. – 2009. – Vol. 50, № 12. – Р. 5667-5671.
23. Riazuddin S. A., McGlumphy E.J., Yeo W.S. et al. Replication of the TCF4 intronic variant in late-onset Fuchs corneal dystrophy and evidence of independence from the FCD2 locus // Invest. Ophthalmol. Vis. Sci. – 2011. – Vol. 52, № 5. – P. 2825-2829.
24. Riazuddin S.A., Parker D.S., McGlumphy E.J. et al. Mutations in LOXHD1, a recessive-deafness locus, cause dominant lateonset Fuchs corneal dystrophy // Am. J. Hum. Genet. – 2012. – Vol. 90, № 3. – P. 533-539.
25. Riazuddin S.A., Vasanth S., Katsanis N., Gottsch J.D. Mutations in AGBL1 cause dominant late-onset Fuchs corneal dystrophy and alter protein-protein interaction with TCF4 // Am. J. Hum. Genet. – 2013. – Vol. 93, № 4. – P. 758-764.
26. Riazuddin S. A., Vithana E.N., Seet L.-F. et al. Missense mutations in the sodium borate cotransporter SLC4A11 cause late‐onset Fuchs corneal dystrophya // Human mutation. – 2010. – Vol. 31, № 11. – P. 1261-1268.
27. Riazuddin S. A., Zaghloul N.A., AlSaif A. et al. Missense mutations in TCF8 cause late-onset Fuchs corneal dystrophy and interact with FCD4 on chromosome 9p // Am. J. Hum. Genet. – 2010. – Vol. 86, № 1. – Р. 45-53.
28. Stamler J.F., Roos B.R., Wagoner M.D. et al. Confirmation of the association between the TCF4 risk allele and Fuchs endothelial corneal dystrophy in patients from the Midwestern United States // Ophthalmic Genet. – 2013. – Vol. 34, № 1-2. – P. 32-34.
29. Sundin O.H., Broman K.W., Chang H.H. et al. A common locus for late-onset Fuchs corneal dystrophy maps to 18q21. 2-q21. 32 // Invest. Ophthalmol. Vis. Sci. – 2006. – Vol. 47, № 9. – P. 3919-3926.
30. Sundin O.H., Jun A.S., Broman K.W. et al. Linkage of late-onset Fuchs corneal dystrophy to a novel locus at 13pTel-13q12. 13 // Invest. Ophthalmol. Vis. Sci. – 2006. – Vol. 47, № 1. – P. 140-145.
31. Thalamuthu A., Khor C.C., Venkataraman D. et al. Association of TCF4 gene polymorphisms with Fuchs’ corneal dystrophy in the Chinese // Invest. Ophthalmol. Vis. Sci. – 2011. – Vol. 52, № 8. – P. 5573-5578.
32. Vasanth S., Eghrari A.O., Gapsis B.C. et al. Expansion of CTG18. 1 Trinucleotide Repeat in TCF4 Is a Potent Driver of Fuchs’ Corneal DystrophyExpansion of CTG18. 1 in TCF4 Is a Driver of FCD // Invest. Ophthalmol. Vis. Sci. – 2015. – Vol. 56, № 8. – P. 4531-4536.
33. Vithana E.N., Morgan P.E., Ramprasad V. et al. SLC4A11 mutations in Fuchs endothelial corneal dystrophy // Hum. Mol. Genet. – 2008. – Vol. 17, № 5. – P. 656-666.
34. Vithana E.N., Morgan P., Sundaresan P. et al. Mutations in sodiumborate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2) // Nat. Genet. – 2006. – Vol. 38, № 7. – P. 755-757.
35. Warner J.P., Barron L.H., Goudie D. et al. A general method for the detection of large CAG repeat expansions by fluorescent PCR // J. Med. Genet. – 1996. – Vol. 33, № 12. – P. 1022-1026.
36. Wieben E.D., Aleff R.A., Eckloff B.W. et al. Comprehensive Assessment of Genetic Variants Within TCF4 in Fuchs’ Endothelial Corneal DystrophyAssessment of TCF4 Variants in FECD // Invest. Ophthalmol. Vis. Sci. – 2014. – Vol. 55, № 9. – P. 6101-6107.
37. Wieben E.D., Aleff R.A., Tosakulwong N. et al. A common trinucleotide repeat expansion within the transcription factor 4 (TCF4, E2-2) gene predicts Fuchs corneal dystrophy // PLoS One. – 2012. – Vol. 7, № 11. – P. e49083.
38. Zhu A.Y., Eberhart C.G., Jun A.S. Fuchs endothelial corneal dystrophy: a neurodegenerative disorder? // JAMA Ophthalmol. – 2014. – Vol. 132, № 4. – P. 377-378.
Fyodorov Journal of Ophthalmic Surgery. 2016; : 44-50
THE STUDY OF GENETIC MARKERS ASSOCIATED WITH PRIMARY ENDOTHELIAL CORNEAL DYSTROPHY (FUCHS)
https://doi.org/undefinedAbstract
Purpose. To assess the frequency of the marker alleles at single polymorphisms rs613872, rs17595731 and CTG18.1 trinucleotide repeat expansion in Russian patients with Fuchs’ endothelial corneal dystrophy (FECD).
Material and methods. This study included 78 FECD patients. Single nucleotide polymorphisms were genotyped using Sanger sequencing and the number of trinucleotide repeats was determined by a combination of short tandem repeat assay and triplet repeat primed PCR assay (TP-PCR) (Triplet Primed Polymerase Chain Reaction).
Results. At least one marker allele was found 74.4% of FECD patients. One rs613872 marker allele was detected in 66.7% of FECD patients, and simultaneously two alleles – in 6.4%. The rs17595731 genotype G/C was present in 12.8% of FECD patients. Monoallelic expansion of the CTG18.1 was detected in 62.8% of FECD patients, and biallelic – in 3.9%. Hence, the distribution of rs613872, rs17595731 and CTG18.1 marker alleles in Russian FECD patients was similar to those reported for European and American FECD populations.
Conclusion. The present paper for the first time assessed the incidence of marker alleles in single nucleotide polymorphisms rs613872 and rs17595731 as well as the expansion of trinucleotide repetitions CTG18.1 in Russian FECD patients. Our study showed that the combination of the two markers rs613872 and rs17595731 allows detecting 74.4% of FECD patients, and thereat, the marker rs613872 makes the greatest contribution to the total value of the sensitivity of the test.
References
1. Afshari N.A., Li Y.J., Pericak-Vance M.A. et al. Genome-wide linkage scan in Fuchs endothelial corneal dystrophy // Invest. Ophthalmol. Vis. Sci. – 2009. – Vol. 50, № 3. – P. 1093-1097.
2. Aldave A.J., Rayner S. A., Salem A.K. et al. No pathogenic mutations identified in the COL8A1 and COL8A2 genes in familial Fuchs corneal dystrophy // Invest. Ophthalmol. Vis. Sci. – 2006. – Vol. 47, № 9. – P. 3787-3790.
3. Baratz K.H., Tosakulwong N., Ryu E. et al. E2-2 protein and Fuchs’s corneal dystrophy // N. Engl. J. Med. – 2010. – Vol. 363, № 11. – P. 1016-1024.
4. Biswas S., Munier F.L., Yardley J. et al. Missense mutations in COL8A2, the gene encoding the α2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy // Human molecular genetics. – 2001. – Vol. 10, № 21. – P. 2415-2423.
5. Du J., Aleff R.A., Soragni E. et al. RNA toxicity and missplicing in the common eye disease fuchs endothelial corneal dystrophy // J. Biol. Chem. – 2015. – Vol. 290, №. 10. – P. 5979-5990.
6. Eghrari A.O., McGlumphy E.J., Iliff B.W. et al. Prevalence and severity of Fuchs corneal dystrophy in Tangier Island // Am. J. Ophthalmol. – 2012. – Vol. 153, № 6. – P. 1067-1072.
7. Kang P.C., Klintworth G.K., Kim T. et al. Trends in the indications for penetrating keratoplasty, 1980-2001 // Cornea. – 2005. – Vol. 24, № 7. – P. 801-803.
8. Krachmer J.H., Purcell Jr.J.J., Young C.W., Bucher K.D. Corneal endothelial dystrophy: a study of 64 families // Arch. Ophthalmol. – 1978. – Vol. 96, № 11. – P. 2036-2039.
9. Krafchak C.M., Pawar H.M., Sayoko E. et al. Mutations in TCF8 cause posterior polymorphous corneal dystrophy and ectopic expression of COL4A3 by corneal endothelial cells // Am. J. Hum. Genet. – 2005. – Vol. 77, № 5. – P. 694-708.
10. Kuot A., Hewitt A.W., Griggs K. et al. Association of TCF4 and CLU polymorphisms with Fuchs’ endothelial dystrophy and implication of CLU and TGFBI proteins in the disease process // Europ. J. Hum. Genet. – 2012. – Vol. 20, № 6. – P. 632-638.
11. Li D., Peng X.Y., Sun H.Y. Association of TCF4 polymorphisms and fuchs’ endothelial dystrophy: a meta-analysis // BMC Ophthalmol. – 2015. – Vol. 15, № 1. – P. 1.
12. Li Y.J., Minear M.A., Rimmler J. et al. Replication of TCF4 through association and linkage studies in late-onset Fuchs endothelial corneal dystrophy // PLoS One. – 2011. – Vol. 6, № 4. – P. e18044.
13. Liskova P., Prescott Q., Bhattacharya S.S., Tuft S.J. British family with early-onset Fuchs’ endothelial corneal dystrophy associated with p. L450W mutation in the COL8A2 gene // Br. J. Ophthalmol. – 2007. – Vol. 91, № 12. – R. 1717-1718.
14. Magovern M., Beauchamp G.R., McTigue J.W. et al. Inheritance of Fuchs’ combined dystrophy // Ophthalmol. – 1979. – Vol. 86, № 10. – P. 1897-1920.
15. Mehta J.S., Vithana E.N., Tan D.T.H. et al. Analysis of the posterior polymorphous corneal dystrophy 3 gene, TCF8, in lateonset Fuchs endothelial corneal dystrophy // Invest. Ophthalmol. Vis. Sci. – 2008. – Vol. 49, № 1. – P. 184-188.
16. Mohan A., Goodwin M., Swanson M.S. RNA-protein interactions in unstable microsatellite diseases // Brain Res. – 2014. – Vol. 1584. – P. 3-14.
17. Mok J.W., Kim H.S., Joo C.K. Q455V mutation in COL8A2 is associated with Fuchs’ corneal dystrophy in Korean patients // Eye. – 2009. – Vol. 23, № 4. – P. 895-903.
18. Mootha V.V. Gong X., Ku H.C., Xing C. Association and Familial Segregation of CTG18. 1 Trinucleotide Repeat Expansion of TCF4 Gene in Fuchs’ Endothelial Corneal Dystrophy TCF4 Gene in Fuchs’ Endothelial Corneal Dystrophy // Invest. Ophthalmol. Vis. Sci. – 2014. – Vol. 55, № 1. – P. 33-42.
19. Mootha V.V., Hussain I., Cunnusamy K. et al. TCF4 Triplet Repeat Expansion and Nuclear RNA Foci in Fuchs’ Endothelial Corneal DystrophyToxic RNA in Fuchs’ Dystrophy // Invest. Ophthalmol. Vis. Sci. – 2015. – Vol. 56, № 3. – R. 2003-2011.
20. Nanda G.G., Padhy B., Samal S. et al. Genetic Association of TCF4 Intronic Polymorphisms, CTG18. 1 and rs17089887, With Fuchs’ Endothelial Corneal Dystrophy in an Indian PopulationGenetic Association of TCF4 With FECD // Invest. Ophthalmol. Vis. Sci. – 2014. – Vol. 55, № 11. – R. 7674-7680.
21. Okonechnikov K., Golosova O., Fursov M. UGENE team. Unipro UGENE: a unified bioinformatics toolkit // Bioinformatics. – 2012. – Vol. 28, № 8. – R. 1166-1167.
22. Riazuddin S. A., Eghrari A.O., Al-Saif A. et al. Linkage of a mild late-onset phenotype of Fuchs corneal dystrophy to a novel locus at 5q33. 1-q35. 2 // Invest. Ophthalmol. Vis. Sci. – 2009. – Vol. 50, № 12. – R. 5667-5671.
23. Riazuddin S. A., McGlumphy E.J., Yeo W.S. et al. Replication of the TCF4 intronic variant in late-onset Fuchs corneal dystrophy and evidence of independence from the FCD2 locus // Invest. Ophthalmol. Vis. Sci. – 2011. – Vol. 52, № 5. – P. 2825-2829.
24. Riazuddin S.A., Parker D.S., McGlumphy E.J. et al. Mutations in LOXHD1, a recessive-deafness locus, cause dominant lateonset Fuchs corneal dystrophy // Am. J. Hum. Genet. – 2012. – Vol. 90, № 3. – P. 533-539.
25. Riazuddin S.A., Vasanth S., Katsanis N., Gottsch J.D. Mutations in AGBL1 cause dominant late-onset Fuchs corneal dystrophy and alter protein-protein interaction with TCF4 // Am. J. Hum. Genet. – 2013. – Vol. 93, № 4. – P. 758-764.
26. Riazuddin S. A., Vithana E.N., Seet L.-F. et al. Missense mutations in the sodium borate cotransporter SLC4A11 cause late‐onset Fuchs corneal dystrophya // Human mutation. – 2010. – Vol. 31, № 11. – P. 1261-1268.
27. Riazuddin S. A., Zaghloul N.A., AlSaif A. et al. Missense mutations in TCF8 cause late-onset Fuchs corneal dystrophy and interact with FCD4 on chromosome 9p // Am. J. Hum. Genet. – 2010. – Vol. 86, № 1. – R. 45-53.
28. Stamler J.F., Roos B.R., Wagoner M.D. et al. Confirmation of the association between the TCF4 risk allele and Fuchs endothelial corneal dystrophy in patients from the Midwestern United States // Ophthalmic Genet. – 2013. – Vol. 34, № 1-2. – P. 32-34.
29. Sundin O.H., Broman K.W., Chang H.H. et al. A common locus for late-onset Fuchs corneal dystrophy maps to 18q21. 2-q21. 32 // Invest. Ophthalmol. Vis. Sci. – 2006. – Vol. 47, № 9. – P. 3919-3926.
30. Sundin O.H., Jun A.S., Broman K.W. et al. Linkage of late-onset Fuchs corneal dystrophy to a novel locus at 13pTel-13q12. 13 // Invest. Ophthalmol. Vis. Sci. – 2006. – Vol. 47, № 1. – P. 140-145.
31. Thalamuthu A., Khor C.C., Venkataraman D. et al. Association of TCF4 gene polymorphisms with Fuchs’ corneal dystrophy in the Chinese // Invest. Ophthalmol. Vis. Sci. – 2011. – Vol. 52, № 8. – P. 5573-5578.
32. Vasanth S., Eghrari A.O., Gapsis B.C. et al. Expansion of CTG18. 1 Trinucleotide Repeat in TCF4 Is a Potent Driver of Fuchs’ Corneal DystrophyExpansion of CTG18. 1 in TCF4 Is a Driver of FCD // Invest. Ophthalmol. Vis. Sci. – 2015. – Vol. 56, № 8. – P. 4531-4536.
33. Vithana E.N., Morgan P.E., Ramprasad V. et al. SLC4A11 mutations in Fuchs endothelial corneal dystrophy // Hum. Mol. Genet. – 2008. – Vol. 17, № 5. – P. 656-666.
34. Vithana E.N., Morgan P., Sundaresan P. et al. Mutations in sodiumborate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2) // Nat. Genet. – 2006. – Vol. 38, № 7. – P. 755-757.
35. Warner J.P., Barron L.H., Goudie D. et al. A general method for the detection of large CAG repeat expansions by fluorescent PCR // J. Med. Genet. – 1996. – Vol. 33, № 12. – P. 1022-1026.
36. Wieben E.D., Aleff R.A., Eckloff B.W. et al. Comprehensive Assessment of Genetic Variants Within TCF4 in Fuchs’ Endothelial Corneal DystrophyAssessment of TCF4 Variants in FECD // Invest. Ophthalmol. Vis. Sci. – 2014. – Vol. 55, № 9. – P. 6101-6107.
37. Wieben E.D., Aleff R.A., Tosakulwong N. et al. A common trinucleotide repeat expansion within the transcription factor 4 (TCF4, E2-2) gene predicts Fuchs corneal dystrophy // PLoS One. – 2012. – Vol. 7, № 11. – P. e49083.
38. Zhu A.Y., Eberhart C.G., Jun A.S. Fuchs endothelial corneal dystrophy: a neurodegenerative disorder? // JAMA Ophthalmol. – 2014. – Vol. 132, № 4. – P. 377-378.
